Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 17 1960974 1960974 + Silent SNP C C T TCGA-OR-A5JI-01A-11D-A29I-10 TCGA-OR-A5JI-10A-01D-A29L-10 g.chr17:1960974C>T c.1047C>T c.(1045-1047)cgC>cgT p.R349R ACC 17 1960974 1960974 + Silent SNP C C T TCGA-OR-A5LC-01A-11D-A29I-10 TCGA-OR-A5LC-10A-01D-A29L-10 g.chr17:1960974C>T c.1047C>T c.(1045-1047)cgC>cgT p.R349R COAD 17 1960068 1960068 + Silent SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr17:1960068C>T c.141C>T c.(139-141)tgC>tgT p.C47C COAD 17 1961239 1961239 + Missense_Mutation SNP G G A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr17:1961239G>A c.1312G>A c.(1312-1314)Gtg>Atg p.V438M COAD 17 1961656 1961656 + Missense_Mutation SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr17:1961656C>T c.1729C>T c.(1729-1731)Cgc>Tgc p.R577C COADREAD 17 1960068 1960068 + Silent SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr17:1960068C>T c.141C>T c.(139-141)tgC>tgT p.C47C COADREAD 17 1961239 1961239 + Missense_Mutation SNP G G A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr17:1961239G>A c.1312G>A c.(1312-1314)Gtg>Atg p.V438M COADREAD 17 1961656 1961656 + Missense_Mutation SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr17:1961656C>T c.1729C>T c.(1729-1731)Cgc>Tgc p.R577C ESCA 17 1961209 1961209 + Nonsense_Mutation SNP G G T TCGA-LN-A9FO-01A-11D-A387-09 TCGA-LN-A9FO-10A-01D-A38A-09 g.chr17:1961209G>T c.1282G>T c.(1282-1284)Gag>Tag p.E428* HNSC 17 1960080 1960080 + Missense_Mutation SNP C C G TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 g.chr17:1960080C>G c.153C>G c.(151-153)atC>atG p.I51M KIPAN 17 1961130 1961130 + Frame_Shift_Del DEL G G - TCGA-CZ-4853-01A-01D-1429-08 TCGA-CZ-4853-11A-01D-1429-08 g.chr17:1961130delG c.1203delG c.(1201-1203)gagfs p.E402fs KIRC 17 1961130 1961130 + Frame_Shift_Del DEL G G - TCGA-CZ-4853-01A-01D-1429-08 TCGA-CZ-4853-11A-01D-1429-08 g.chr17:1961130delG c.1203delG c.(1201-1203)gagfs p.E402fs LUAD 17 1961716 1961716 + Missense_Mutation SNP G G A TCGA-44-8120-01A-11D-2238-08 TCGA-44-8120-10A-01D-2238-08 g.chr17:1961716G>A c.1789G>A c.(1789-1791)Ggc>Agc p.G597S LUSC 17 1961106 1961106 + Silent SNP C C T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 g.chr17:1961106C>T c.1179C>T c.(1177-1179)ggC>ggT p.G393G PAAD 17 1960076 1960076 + Missense_Mutation SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:1960076T>C c.149T>C c.(148-150)aTc>aCc p.I50T PAAD 17 1960163 1960163 + Missense_Mutation SNP A A C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:1960163A>C c.236A>C c.(235-237)gAc>gCc p.D79A PRAD 17 1960006 1960006 + Missense_Mutation SNP C C T TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 g.chr17:1960006C>T c.79C>T c.(79-81)Ccc>Tcc p.P27S PRAD 17 1960405 1960407 + In_Frame_Del DEL GGC GGC - TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 g.chr17:1960405_1960407delGGC c.478_480delGGC c.(478-480)ggcdel p.G167del PRAD 17 1961548 1961548 + Missense_Mutation SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 g.chr17:1961548G>A c.1621G>A c.(1621-1623)Ggg>Agg p.G541R PRAD 17 1961767 1961767 + Missense_Mutation SNP G G A TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr17:1961767G>A c.1840G>A c.(1840-1842)Gcc>Acc p.A614T SARC 17 1961286 1961286 + Silent SNP C C T TCGA-DX-A240-01A-32D-A27P-09 TCGA-DX-A240-10A-01D-A27P-09 g.chr17:1961286C>T c.1359C>T c.(1357-1359)aaC>aaT p.N453N SARC 17 1961396 1961396 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr17:1961396G>A c.1469G>A c.(1468-1470)gGg>gAg p.G490E SKCM 17 1960405 1960407 + In_Frame_Del DEL GGC GGC - TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 g.chr17:1960405_1960407delGGC c.478_480delGGC c.(478-480)ggcdel p.G167del SKCM 17 1961664 1961664 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:1961664G>A c.1737G>A c.(1735-1737)acG>acA p.T579T SKCM 17 1961875 1961875 + Frame_Shift_Del DEL T T - TCGA-D9-A6EG-06A-12D-A32N-08 TCGA-D9-A6EG-10A-01D-A32N-08 g.chr17:1961875delT c.1948delT c.(1948-1950)tttfs p.F650fs

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BRCA-EU 17 1954028 1954028 single base substitution C T upstream_gene_variant BRCA-EU 17 1954768 1954768 single base substitution G C upstream_gene_variant BRCA-EU 17 1959830 1959830 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 17 1959830 1959830 single base substitution C T intron_variant BRCA-EU 17 1960794 1960794 single base substitution G A downstream_gene_variant BRCA-EU 17 1960794 1960794 single base substitution G A synonymous_variant L270L 810G>A BRCA-EU 17 1960794 1960794 single base substitution G A synonymous_variant L289L 867G>A BRCA-EU 17 1960896 1960896 single base substitution C T downstream_gene_variant BRCA-EU 17 1960896 1960896 single base substitution C T synonymous_variant D304D 912C>T BRCA-EU 17 1960896 1960896 single base substitution C T synonymous_variant D323D 969C>T BRCA-EU 17 1961674 1961674 single base substitution C T downstream_gene_variant BRCA-EU 17 1961674 1961674 single base substitution C T missense_variant R564C 1690C>T BRCA-EU 17 1961674 1961674 single base substitution C T missense_variant R583C 1747C>T BRCA-EU 17 1967257 1967257 single base substitution T C downstream_gene_variant BRCA-EU 17 1967382 1967382 single base substitution G A downstream_gene_variant BRCA-EU 17 1967510 1967510 single base substitution G A downstream_gene_variant BRCA-FR 17 1957853 1957853 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-FR 17 1957853 1957853 single base substitution C T intron_variant BRCA-FR 17 1957853 1957853 single base substitution C T upstream_gene_variant BRCA-UK 17 1967510 1967510 single base substitution G A downstream_gene_variant BTCA-JP 17 1953622 1953622 single base substitution A T upstream_gene_variant BTCA-JP 17 1960118 1960118 single base substitution T C downstream_gene_variant BTCA-JP 17 1960118 1960118 single base substitution T C missense_variant V45A 134T>C BTCA-JP 17 1960118 1960118 single base substitution T C missense_variant V64A 191T>C BTCA-JP 17 1960879 1960879 deletion of <=200bp C - downstream_gene_variant BTCA-JP 17 1960879 1960879 deletion of <=200bp C - frameshift_variant P299 BTCA-JP 17 1960879 1960879 deletion of <=200bp C - frameshift_variant P318 BTCA-JP 17 1964770 1964770 single base substitution C G downstream_gene_variant CESC-US 17 1964523 1964523 single base substitution C T downstream_gene_variant CESC-US 17 1964759 1964759 insertion of <=200bp - G downstream_gene_variant CLLE-ES 17 1966090 1966090 single base substitution A G downstream_gene_variant COAD-US 17 1960068 1960068 single base substitution C T downstream_gene_variant COAD-US 17 1960068 1960068 single base substitution C T synonymous_variant C28C 84C>T COAD-US 17 1960068 1960068 single base substitution C T synonymous_variant C47C 141C>T COAD-US 17 1960240 1960240 single base substitution C T downstream_gene_variant COAD-US 17 1960240 1960240 single base substitution C T missense_variant R105C 313C>T COAD-US 17 1960240 1960240 single base substitution C T missense_variant R86C 256C>T COAD-US 17 1961139 1961139 single base substitution T C downstream_gene_variant COAD-US 17 1961139 1961139 single base substitution T C synonymous_variant G385G 1155T>C COAD-US 17 1961139 1961139 single base substitution T C synonymous_variant G404G 1212T>C COAD-US 17 1961239 1961239 single base substitution G A downstream_gene_variant COAD-US 17 1961239 1961239 single base substitution G A missense_variant V419M 1255G>A COAD-US 17 1961239 1961239 single base substitution G A missense_variant V438M 1312G>A COAD-US 17 1961364 1961364 single base substitution C T downstream_gene_variant COAD-US 17 1961364 1961364 single base substitution C T synonymous_variant A460A 1380C>T COAD-US 17 1961364 1961364 single base substitution C T synonymous_variant A479A 1437C>T COAD-US 17 1961656 1961656 single base substitution C T downstream_gene_variant COAD-US 17 1961656 1961656 single base substitution C T missense_variant R558C 1672C>T COAD-US 17 1961656 1961656 single base substitution C T missense_variant R577C 1729C>T COCA-CN 17 1959672 1959672 single base substitution A G 5_prime_UTR_variant COCA-CN 17 1959672 1959672 single base substitution A G intron_variant COCA-CN 17 1959947 1959947 single base substitution C G 5_prime_UTR_variant COCA-CN 17 1959947 1959947 single base substitution C G intron_variant COCA-CN 17 1960280 1960280 single base substitution T C downstream_gene_variant COCA-CN 17 1960280 1960280 single base substitution T C missense_variant V118A 353T>C COCA-CN 17 1960280 1960280 single base substitution T C missense_variant V99A 296T>C COCA-CN 17 1960884 1960884 single base substitution C T downstream_gene_variant COCA-CN 17 1960884 1960884 single base substitution C T synonymous_variant P300P 900C>T COCA-CN 17 1960884 1960884 single base substitution C T synonymous_variant P319P 957C>T COCA-CN 17 1961460 1961460 single base substitution G A downstream_gene_variant COCA-CN 17 1961460 1961460 single base substitution G A synonymous_variant S492S 1476G>A COCA-CN 17 1961460 1961460 single base substitution G A synonymous_variant S511S 1533G>A COCA-CN 17 1961747 1961747 single base substitution T C downstream_gene_variant COCA-CN 17 1961747 1961747 single base substitution T C missense_variant I588T 1763T>C COCA-CN 17 1961747 1961747 single base substitution T C missense_variant I607T 1820T>C COCA-CN 17 1964770 1964770 single base substitution C G downstream_gene_variant COCA-CN 17 1964860 1964860 single base substitution G A downstream_gene_variant COCA-CN 17 1964877 1964877 single base substitution G A downstream_gene_variant ESAD-UK 17 1952463 1952463 single base substitution C T upstream_gene_variant ESAD-UK 17 1963088 1963088 single base substitution G C downstream_gene_variant ESAD-UK 17 1963930 1963930 single base substitution C T downstream_gene_variant ESCA-CN 17 1959822 1959822 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant ESCA-CN 17 1959822 1959822 single base substitution C T intron_variant KIRC-US 17 1961130 1961130 deletion of <=200bp G - downstream_gene_variant KIRC-US 17 1961130 1961130 deletion of <=200bp G - frameshift_variant E382 KIRC-US 17 1961130 1961130 deletion of <=200bp G - frameshift_variant E401 KIRC-US 17 1964808 1964808 single base substitution A G downstream_gene_variant LICA-FR 17 1960587 1960587 single base substitution G A downstream_gene_variant LICA-FR 17 1960587 1960587 single base substitution G A synonymous_variant A201A 603G>A LICA-FR 17 1960587 1960587 single base substitution G A synonymous_variant A220A 660G>A LICA-FR 17 1960933 1960933 single base substitution C T downstream_gene_variant LICA-FR 17 1960933 1960933 single base substitution C T missense_variant P317S 949C>T LICA-FR 17 1960933 1960933 single base substitution C T missense_variant P336S 1006C>T LICA-FR 17 1961380 1961380 single base substitution C T downstream_gene_variant LICA-FR 17 1961380 1961380 single base substitution C T missense_variant P466S 1396C>T LICA-FR 17 1961380 1961380 single base substitution C T missense_variant P485S 1453C>T LICA-FR 17 1961661 1961661 single base substitution C G downstream_gene_variant LICA-FR 17 1961661 1961661 single base substitution C G synonymous_variant L559L 1677C>G LICA-FR 17 1961661 1961661 single base substitution C G synonymous_variant L578L 1734C>G LIHC-US 17 1964865 1964865 single base substitution T C downstream_gene_variant LINC-JP 17 1959828 1959828 single base substitution T C 5_prime_UTR_variant LINC-JP 17 1959828 1959828 single base substitution T C intron_variant LINC-JP 17 1961455 1961455 single base substitution G A downstream_gene_variant LINC-JP 17 1961455 1961455 single base substitution G A missense_variant A491T 1471G>A LINC-JP 17 1961455 1961455 single base substitution G A missense_variant A510T 1528G>A LINC-JP 17 1961581 1961581 single base substitution C T downstream_gene_variant LINC-JP 17 1961581 1961581 single base substitution C T missense_variant R533C 1597C>T LINC-JP 17 1961581 1961581 single base substitution C T missense_variant R552C 1654C>T LIRI-JP 17 1958087 1958087 single base substitution T C 5_prime_UTR_variant LIRI-JP 17 1958087 1958087 single base substitution T C intron_variant LIRI-JP 17 1958087 1958087 single base substitution T C upstream_gene_variant LIRI-JP 17 1961575 1961575 single base substitution A G downstream_gene_variant LIRI-JP 17 1961575 1961575 single base substitution A G missense_variant M531V 1591A>G LIRI-JP 17 1961575 1961575 single base substitution A G missense_variant M550V 1648A>G LIRI-JP 17 1963949 1963949 single base substitution G A downstream_gene_variant LIRI-JP 17 1967587 1967587 deletion of <=200bp C - downstream_gene_variant LUSC-KR 17 1964770 1964770 single base substitution C G downstream_gene_variant LUSC-US 17 1961106 1961106 single base substitution C T downstream_gene_variant LUSC-US 17 1961106 1961106 single base substitution C T synonymous_variant G374G 1122C>T LUSC-US 17 1961106 1961106 single base substitution C T synonymous_variant G393G 1179C>T MALY-DE 17 1954394 1954394 single base substitution C T upstream_gene_variant MALY-DE 17 1965297 1965297 deletion of <=200bp T - downstream_gene_variant MELA-AU 17 1953717 1953717 single base substitution C T upstream_gene_variant MELA-AU 17 1953810 1953810 single base substitution G T upstream_gene_variant MELA-AU 17 1953819 1953819 single base substitution C T upstream_gene_variant MELA-AU 17 1953867 1953867 single base substitution C A upstream_gene_variant MELA-AU 17 1954039 1954041 multiple base substitution (>=2bp and <=200bp) GGC AAA upstream_gene_variant MELA-AU 17 1954785 1954785 single base substitution C T upstream_gene_variant MELA-AU 17 1954867 1954867 single base substitution C T upstream_gene_variant MELA-AU 17 1956389 1956389 single base substitution G A upstream_gene_variant MELA-AU 17 1956411 1956411 single base substitution G T upstream_gene_variant MELA-AU 17 1956731 1956731 single base substitution C T upstream_gene_variant MELA-AU 17 1957263 1957263 single base substitution G A upstream_gene_variant MELA-AU 17 1957844 1957844 single base substitution G A 5_prime_UTR_variant MELA-AU 17 1957844 1957844 single base substitution G A intron_variant MELA-AU 17 1957844 1957844 single base substitution G A upstream_gene_variant MELA-AU 17 1958028 1958028 single base substitution C T 5_prime_UTR_variant MELA-AU 17 1958028 1958028 single base substitution C T intron_variant MELA-AU 17 1958028 1958028 single base substitution C T upstream_gene_variant MELA-AU 17 1958186 1958186 single base substitution G A 5_prime_UTR_variant MELA-AU 17 1958186 1958186 single base substitution G A intron_variant MELA-AU 17 1958186 1958186 single base substitution G A splice_acceptor_variant MELA-AU 17 1958186 1958186 single base substitution G A upstream_gene_variant MELA-AU 17 1958935 1958935 single base substitution G A intron_variant MELA-AU 17 1958935 1958935 single base substitution G A upstream_gene_variant MELA-AU 17 1959096 1959096 single base substitution G A intron_variant MELA-AU 17 1959096 1959096 single base substitution G A upstream_gene_variant MELA-AU 17 1959140 1959140 single base substitution A G intron_variant MELA-AU 17 1959140 1959140 single base substitution A G upstream_gene_variant MELA-AU 17 1959860 1959860 single base substitution C T 5_prime_UTR_variant MELA-AU 17 1959860 1959860 single base substitution C T intron_variant MELA-AU 17 1959890 1959890 single base substitution G A 5_prime_UTR_variant MELA-AU 17 1959890 1959890 single base substitution G A intron_variant MELA-AU 17 1960071 1960071 single base substitution C G downstream_gene_variant MELA-AU 17 1960071 1960071 single base substitution C G missense_variant D29E 87C>G MELA-AU 17 1960071 1960071 single base substitution C G missense_variant D48E 144C>G MELA-AU 17 1960714 1960714 single base substitution G A downstream_gene_variant MELA-AU 17 1960714 1960714 single base substitution G A missense_variant E244K 730G>A MELA-AU 17 1960714 1960714 single base substitution G A missense_variant E263K 787G>A MELA-AU 17 1961424 1961424 single base substitution C T downstream_gene_variant MELA-AU 17 1961424 1961424 single base substitution C T synonymous_variant G480G 1440C>T MELA-AU 17 1961424 1961424 single base substitution C T synonymous_variant G499G 1497C>T MELA-AU 17 1961523 1961524 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 1961523 1961524 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant TR513TW MELA-AU 17 1961523 1961524 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant TR532TW MELA-AU 17 1962780 1962780 single base substitution C T 3_prime_UTR_variant MELA-AU 17 1962780 1962780 single base substitution C T downstream_gene_variant MELA-AU 17 1963440 1963440 single base substitution G A downstream_gene_variant MELA-AU 17 1963727 1963727 single base substitution C T downstream_gene_variant MELA-AU 17 1963995 1963995 single base substitution G A downstream_gene_variant MELA-AU 17 1964080 1964080 single base substitution A G downstream_gene_variant MELA-AU 17 1964362 1964362 single base substitution G A downstream_gene_variant MELA-AU 17 1964764 1964764 insertion of <=200bp - A downstream_gene_variant MELA-AU 17 1964764 1964764 single base substitution G A downstream_gene_variant MELA-AU 17 1964915 1964915 single base substitution C T downstream_gene_variant MELA-AU 17 1965213 1965213 single base substitution G A downstream_gene_variant MELA-AU 17 1965420 1965420 single base substitution G A downstream_gene_variant MELA-AU 17 1966625 1966625 single base substitution C T downstream_gene_variant MELA-AU 17 1966651 1966651 single base substitution G A downstream_gene_variant MELA-AU 17 1967081 1967081 single base substitution G A downstream_gene_variant MELA-AU 17 1967176 1967176 single base substitution G A downstream_gene_variant MELA-AU 17 1967507 1967507 single base substitution G A downstream_gene_variant MELA-AU 17 1967709 1967709 single base substitution G A downstream_gene_variant MELA-AU 17 1967930 1967930 single base substitution G A downstream_gene_variant ORCA-IN 17 1966428 1966428 single base substitution G A downstream_gene_variant PACA-AU 17 1953266 1953266 single base substitution A G upstream_gene_variant PACA-AU 17 1955468 1955468 single base substitution C T upstream_gene_variant PACA-AU 17 1961432 1961432 single base substitution A T downstream_gene_variant PACA-AU 17 1961432 1961432 single base substitution A T missense_variant E483V 1448A>T PACA-AU 17 1961432 1961432 single base substitution A T missense_variant E502V 1505A>T PACA-AU 17 1964908 1964908 single base substitution T C downstream_gene_variant PACA-CA 17 1953105 1953105 single base substitution C T upstream_gene_variant PACA-CA 17 1953130 1953130 single base substitution A C upstream_gene_variant PBCA-DE 17 1954155 1954155 single base substitution G A upstream_gene_variant PBCA-DE 17 1963408 1963408 single base substitution C T downstream_gene_variant PRAD-UK 17 1961159 1961159 single base substitution C T downstream_gene_variant PRAD-UK 17 1961159 1961159 single base substitution C T missense_variant P392L 1175C>T PRAD-UK 17 1961159 1961159 single base substitution C T missense_variant P411L 1232C>T PRAD-US 17 1960405 1960407 deletion of <=200bp GGC - downstream_gene_variant PRAD-US 17 1960405 1960407 deletion of <=200bp GGC - inframe_deletion G141 PRAD-US 17 1960405 1960407 deletion of <=200bp GGC - inframe_deletion G160 PRAD-US 17 1961548 1961548 single base substitution G A downstream_gene_variant PRAD-US 17 1961548 1961548 single base substitution G A missense_variant G522R 1564G>A PRAD-US 17 1961548 1961548 single base substitution G A missense_variant G541R 1621G>A PRAD-US 17 1961767 1961767 single base substitution G A downstream_gene_variant PRAD-US 17 1961767 1961767 single base substitution G A missense_variant A595T 1783G>A PRAD-US 17 1961767 1961767 single base substitution G A missense_variant A614T 1840G>A RECA-EU 17 1960173 1960173 single base substitution C A downstream_gene_variant RECA-EU 17 1960173 1960173 single base substitution C A synonymous_variant L63L 189C>A RECA-EU 17 1960173 1960173 single base substitution C A synonymous_variant L82L 246C>A RECA-EU 17 1964253 1964253 single base substitution T A downstream_gene_variant SKCA-BR 17 1960350 1960350 single base substitution C T downstream_gene_variant SKCA-BR 17 1960350 1960350 single base substitution C T synonymous_variant L122L 366C>T SKCA-BR 17 1960350 1960350 single base substitution C T synonymous_variant L141L 423C>T SKCA-BR 17 1960876 1960876 single base substitution G C downstream_gene_variant SKCA-BR 17 1960876 1960876 single base substitution G C missense_variant E298Q 892G>C SKCA-BR 17 1960876 1960876 single base substitution G C missense_variant E317Q 949G>C SKCA-BR 17 1962613 1962613 single base substitution G C 3_prime_UTR_variant SKCA-BR 17 1962613 1962613 single base substitution G C downstream_gene_variant SKCA-BR 17 1963248 1963248 single base substitution G A downstream_gene_variant SKCA-BR 17 1963646 1963646 single base substitution G A downstream_gene_variant SKCA-BR 17 1966050 1966050 single base substitution T G downstream_gene_variant SKCM-US 17 1959984 1959984 single base substitution G A 5_prime_UTR_variant SKCM-US 17 1959984 1959984 single base substitution G A synonymous_variant T19T 57G>A SKCM-US 17 1960405 1960407 deletion of <=200bp GGC - downstream_gene_variant SKCM-US 17 1960405 1960407 deletion of <=200bp GGC - inframe_deletion G141 SKCM-US 17 1960405 1960407 deletion of <=200bp GGC - inframe_deletion G160 SKCM-US 17 1961664 1961664 single base substitution G A downstream_gene_variant SKCM-US 17 1961664 1961664 single base substitution G A synonymous_variant T560T 1680G>A SKCM-US 17 1961664 1961664 single base substitution G A synonymous_variant T579T 1737G>A STAD-US 17 1960258 1960258 single base substitution G A downstream_gene_variant STAD-US 17 1960258 1960258 single base substitution G A missense_variant E111K 331G>A STAD-US 17 1960258 1960258 single base substitution G A missense_variant E92K 274G>A STAD-US 17 1960262 1960262 single base substitution C T downstream_gene_variant STAD-US 17 1960262 1960262 single base substitution C T missense_variant A112V 335C>T STAD-US 17 1960262 1960262 single base substitution C T missense_variant A93V 278C>T STAD-US 17 1961105 1961105 single base substitution G A downstream_gene_variant STAD-US 17 1961105 1961105 single base substitution G A missense_variant G374D 1121G>A STAD-US 17 1961105 1961105 single base substitution G A missense_variant G393D 1178G>A STAD-US 17 1961160 1961160 single base substitution G A downstream_gene_variant STAD-US 17 1961160 1961160 single base substitution G A synonymous_variant P392P 1176G>A STAD-US 17 1961160 1961160 single base substitution G A synonymous_variant P411P 1233G>A STAD-US 17 1961289 1961289 single base substitution G A downstream_gene_variant STAD-US 17 1961289 1961289 single base substitution G A synonymous_variant A435A 1305G>A STAD-US 17 1961289 1961289 single base substitution G A synonymous_variant A454A 1362G>A STAD-US 17 1961293 1961293 single base substitution G A downstream_gene_variant STAD-US 17 1961293 1961293 single base substitution G A missense_variant V437M 1309G>A STAD-US 17 1961293 1961293 single base substitution G A missense_variant V456M 1366G>A STAD-US 17 1961428 1961428 single base substitution G A downstream_gene_variant STAD-US 17 1961428 1961428 single base substitution G A missense_variant G482R 1444G>A STAD-US 17 1961428 1961428 single base substitution G A missense_variant G501R 1501G>A STAD-US 17 1961719 1961719 single base substitution G A downstream_gene_variant STAD-US 17 1961719 1961719 single base substitution G A missense_variant G579S 1735G>A STAD-US 17 1961719 1961719 single base substitution G A missense_variant G598S 1792G>A STAD-US 17 1964860 1964860 single base substitution G A downstream_gene_variant THCA-SA 17 1960974 1960974 single base substitution C T downstream_gene_variant THCA-SA 17 1960974 1960974 single base substitution C T synonymous_variant R330R 990C>T THCA-SA 17 1960974 1960974 single base substitution C T synonymous_variant R349R 1047C>T UCEC-US 17 1964905 1964905 single base substitution G A downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CSCC-49-T COSM4527518 c.1470G>A p.G490G Substitution - coding silent 17:2058103-2058103 + PD18751a COSM5774094 c.810G>A p.L270L Substitution - coding silent 17:2057500-2057500 + SC_9109 COSM5550571 c.21G>A p.A7A Substitution - coding silent 17:2056711-2056711 + TCGA-HU-A4GQ-01 COSM4064662 c.1309G>A p.V437M Substitution - Missense 17:2057999-2057999 + TCGA-HU-A4G8-01 COSM4064657 c.1233G>A p.P411P Substitution - coding silent 17:2057866-2057866 + T3024 COSM4690282 c.1871C>T p.A624V Substitution - Missense 17:2058504-2058504 + PD13311a COSM5797183 c.969C>T p.D323D Substitution - coding silent 17:2057602-2057602 + TCGA-BR-4370-01 COSM4064665 c.1792G>A p.G598S Substitution - Missense 17:2058425-2058425 + CSCC-31-T COSM4543256 c.277G>A p.A93T Substitution - Missense 17:2056967-2056967 + CSCC-16-T COSM4529523 c.1619G>A p.C540Y Substitution - Missense 17:2058252-2058252 + TCGA-AY-6197-01 COSM3691420 c.1155T>C p.G385G Substitution - coding silent 17:2057845-2057845 + PR-00-1165 COSM244901 c.122C>T p.A41V Substitution - Missense 17:2056812-2056812 + TCGA-BR-8368-01 COSM4064656 c.1121G>A p.G374D Substitution - Missense 17:2057811-2057811 + CSCC-49-T COSM4534182 c.2058G>A p.V686V Substitution - coding silent 17:2058691-2058691 + C0017T COSM4151499 c.246C>A p.L82L Substitution - coding silent 17:2056879-2056879 + sysucc-1317T COSM5448951 c.957C>T p.P319P Substitution - coding silent 17:2057590-2057590 + T2932 COSM4690278 c.1762G>A p.E588K Substitution - Missense 17:2058395-2058395 + 0007_CRUK_PC_0007_T1_DNA COSM3849560 c.1175C>T p.P392L Substitution - Missense 17:2057865-2057865 + LS180 COSM4645939 c.1430C>A p.A477D Substitution - Missense 17:2058063-2058063 + CCK81 COSM4611420 c.1329delG p.E444fs*20 Deletion - Frameshift 17:2058019-2058019 + CHC892T COSM4794783 c.1453C>T p.P485S Substitution - Missense 17:2058086-2058086 + PD13311a COSM5797184 c.912C>T p.D304D Substitution - coding silent 17:2057602-2057602 + T96 COSM4690276 c.951_952insC p.G320fs*7 Insertion - Frameshift 17:2057584-2057585 + CHC322T COSM3766035 c.990C>T p.R330R Substitution - coding silent 17:2057680-2057680 + TCGA-BR-6566-01 COSM4064660 c.1305G>A p.A435A Substitution - coding silent 17:2057995-2057995 + KYSE-510 COSM2798274 c.1681G>A p.E561K Substitution - Missense 17:2058371-2058371 + TCGA-EB-A551-01 COSM3515064 c.57G>A p.T19T Substitution - coding silent 17:2056690-2056690 + TCGA-D5-6540-01 COSM5164156 c.1312G>A p.V438M Substitution - Missense 17:2057945-2057945 + HCC4T COSM1609937 c.1471G>A p.A491T Substitution - Missense 17:2058161-2058161 + TCGA-18-5595-01 COSM705948 c.1122C>T p.G374G Substitution - coding silent 17:2057812-2057812 + T3724 COSM2798273 c.1680G>A p.T560T Substitution - coding silent 17:2058370-2058370 + TCGA-FW-A3R5-06 COSM3889420 c.1737G>A p.T579T Substitution - coding silent 17:2058370-2058370 + PD11338a COSM4264622 c.1747C>T p.R583C Substitution - Missense 17:2058380-2058380 + Mx32 COSM50628 c.1952C>T p.A651V Substitution - Missense 17:2058642-2058642 + HCC4 COSM3717224 c.1528G>A p.A510T Substitution - Missense 17:2058161-2058161 + CHC892T COSM4794784 c.1396C>T p.P466S Substitution - Missense 17:2058086-2058086 + SC_9056 COSM5552129 c.1098C>T p.D366D Substitution - coding silent 17:2057788-2057788 + TCGA-BR-8591-01 COSM4064664 c.1444G>A p.G482R Substitution - Missense 17:2058134-2058134 + MedB-1 COSM5620963 c.1900G>A p.A634T Substitution - Missense 17:2058590-2058590 + T155 COSM1176437 c.146G>A p.S49N Substitution - Missense 17:2056836-2056836 + LS174T COSM4645940 c.1373C>A p.A458D Substitution - Missense 17:2058063-2058063 + T207 COSM4690280 c.1839C>T p.H613H Substitution - coding silent 17:2058472-2058472 + sysucc-1317T COSM5448952 c.900C>T p.P300P Substitution - coding silent 17:2057590-2057590 + CHC1154T COSM4952246 c.660G>A p.A220A Substitution - coding silent 17:2057293-2057293 + CHC1154T COSM4952247 c.603G>A p.A201A Substitution - coding silent 17:2057293-2057293 + TCGA-KK-A59V-01 COSM4878915 c.1840G>A p.A614T Substitution - Missense 17:2058473-2058473 + RKO COSM2798218 c.147C>T p.S49S Substitution - coding silent 17:2056837-2056837 + CSCC-49-T COSM4534183 c.2001G>A p.V667V Substitution - coding silent 17:2058691-2058691 + 61 COSM5740789 c.370G>A p.A124T Substitution - Missense 17:2057060-2057060 + TCGA-EJ-7782-01 COSM3783031 c.1621G>A p.G541R Substitution - Missense 17:2058254-2058254 + CHC892T COSM4795980 c.1006C>T p.P336S Substitution - Missense 17:2057639-2057639 + 46M COSM5587986 c.2118C>T p.D706D Substitution - coding silent 17:2058751-2058751 + STC297 COSM5055305 c.129G>T p.K43N Substitution - Missense 17:2056819-2056819 + T3024 COSM4690283 c.1814C>T p.A605V Substitution - Missense 17:2058504-2058504 + ESCC_41 COSM5629543 c.2059G>A p.D687N Substitution - Missense 17:2058749-2058749 + CHC892T COSM4795981 c.949C>T p.P317S Substitution - Missense 17:2057639-2057639 + Patient_1 COSM5414150 c.702G>A p.A234A Substitution - coding silent 17:2057392-2057392 + HCC107 COSM1609938 c.1597C>T p.R533C Substitution - Missense 17:2058287-2058287 + sysucc-1370T COSM5470631 c.1476G>A p.S492S Substitution - coding silent 17:2058166-2058166 + 8031544 COSM3387741 c.1505A>T p.E502V Substitution - Missense 17:2058138-2058138 + TCGA-BR-8680-01 COSM4064651 c.331G>A p.E111K Substitution - Missense 17:2056964-2056964 + TCGA-BR-4370-01 COSM4064666 c.1735G>A p.G579S Substitution - Missense 17:2058425-2058425 + TCGA-BR-8368-01 COSM4064655 c.1178G>A p.G393D Substitution - Missense 17:2057811-2057811 + SW48 COSM4264599 c.199G>A p.A67T Substitution - Missense 17:2056832-2056832 + sysucc-1370T COSM5470633 c.1763T>C p.I588T Substitution - Missense 17:2058453-2058453 + TCGA-F4-6856-01 COSM5173740 c.1729C>T p.R577C Substitution - Missense 17:2058362-2058362 + 587350 COSM1209658 c.1732G>A p.G578S Substitution - Missense 17:2058422-2058422 + CHC892T COSM4795980 c.1006C>T p.P336S Substitution - Missense 17:2057639-2057639 + I2L-P24Tb-Tumor-Biopsy COSM5364213 c.1012C>G p.L338V Substitution - Missense 17:2057645-2057645 + Pat_63_A COSM1609937 c.1471G>A p.A491T Substitution - Missense 17:2058161-2058161 + KYSE-510 COSM4264621 c.1738G>A p.E580K Substitution - Missense 17:2058371-2058371 + TCGA-AU-6004-01 COSM3691422 c.1380C>T p.A460A Substitution - coding silent 17:2058070-2058070 + RK308_C01 COSM3742116 c.1648A>G p.M550V Substitution - Missense 17:2058281-2058281 + I2L-P24Ta-Tumor-Organoid COSM5364214 c.955C>G p.L319V Substitution - Missense 17:2057645-2057645 + HCC107T COSM1609938 c.1597C>T p.R533C Substitution - Missense 17:2058287-2058287 + RK308_C01 COSM3742117 c.1591A>G p.M531V Substitution - Missense 17:2058281-2058281 + LS174T COSM4645939 c.1430C>A p.A477D Substitution - Missense 17:2058063-2058063 + CHC892T COSM4795981 c.949C>T p.P317S Substitution - Missense 17:2057639-2057639 + I2L-P24Ta-Tumor-Organoid COSM5364213 c.1012C>G p.L338V Substitution - Missense 17:2057645-2057645 + CSCC-16-T COSM4529524 c.1562G>A p.C521Y Substitution - Missense 17:2058252-2058252 + PD18751a COSM5774093 c.867G>A p.L289L Substitution - coding silent 17:2057500-2057500 + TCGA-HU-A4G8-01 COSM4064658 c.1176G>A p.P392P Substitution - coding silent 17:2057866-2057866 + CHC1154T COSM4952247 c.603G>A p.A201A Substitution - coding silent 17:2057293-2057293 + TCGA-D5-6540-01 COSM1381413 c.1255G>A p.V419M Substitution - Missense 17:2057945-2057945 + BD124T COSM5493502 c.895delC p.G301fs*13 Deletion - Frameshift 17:2057585-2057585 + CHC1148T COSM4954578 c.1734C>G p.L578L Substitution - coding silent 17:2058367-2058367 + T207 COSM4690281 c.1782C>T p.H594H Substitution - coding silent 17:2058472-2058472 + Patient_1 COSM5414149 c.759G>A p.A253A Substitution - coding silent 17:2057392-2057392 + ESCC_41 COSM5629542 c.2116G>A p.D706N Substitution - Missense 17:2058749-2058749 + TCGA-BR-6566-01 COSM4064654 c.278C>T p.A93V Substitution - Missense 17:2056968-2056968 + HCC107 COSM3717225 c.1654C>T p.R552C Substitution - Missense 17:2058287-2058287 + TCGA-KK-A59V-01 COSM4878916 c.1783G>A p.A595T Substitution - Missense 17:2058473-2058473 + C0017T COSM2798220 c.189C>A p.L63L Substitution - coding silent 17:2056879-2056879 + TCGA-FW-A3R5-06 COSM2798273 c.1680G>A p.T560T Substitution - coding silent 17:2058370-2058370 + CSCC-31-T COSM4543255 c.334G>A p.A112T Substitution - Missense 17:2056967-2056967 + T3090 COSM3691421 c.1437C>T p.A479A Substitution - coding silent 17:2058070-2058070 + 63 COSM5742573 c.605C>T p.S202L Substitution - Missense 17:2057295-2057295 + PD11338a COSM2798275 c.1690C>T p.R564C Substitution - Missense 17:2058380-2058380 + sysucc-1370T COSM5470630 c.1533G>A p.S511S Substitution - coding silent 17:2058166-2058166 + T3724 COSM3889420 c.1737G>A p.T579T Substitution - coding silent 17:2058370-2058370 + TCGA-BR-8591-01 COSM4064663 c.1501G>A p.G501R Substitution - Missense 17:2058134-2058134 + Patient_1 COSM5414151 c.760G>A p.A254T Substitution - Missense 17:2057393-2057393 + TCGA-F4-6856-01 COSM1381414 c.1672C>T p.R558C Substitution - Missense 17:2058362-2058362 + Pat_63_A COSM3717224 c.1528G>A p.A510T Substitution - Missense 17:2058161-2058161 + 0007_CRUK_PC_0007_T2_DNA COSM3849560 c.1175C>T p.P392L Substitution - Missense 17:2057865-2057865 + TCGA-BR-6566-01 COSM4064659 c.1362G>A p.A454A Substitution - coding silent 17:2057995-2057995 + TCGA-CK-5916-01 COSM3691418 c.256C>T p.R86C Substitution - Missense 17:2056946-2056946 + TCGA-F4-6856-01 COSM1381412 c.84C>T p.C28C Substitution - coding silent 17:2056774-2056774 + TCGA-EJ-7782-01 COSM3783032 c.1564G>A p.G522R Substitution - Missense 17:2058254-2058254 + T1154 COSM4690274 c.360G>A p.P120P Substitution - coding silent 17:2056993-2056993 + LIM1215 COSM4264603 c.1179C>T p.G393G Substitution - coding silent 17:2057812-2057812 + sysucc-1370T COSM5470632 c.1820T>C p.I607T Substitution - Missense 17:2058453-2058453 + TCGA-HU-A4GQ-01 COSM4064661 c.1366G>A p.V456M Substitution - Missense 17:2057999-2057999 + Patient_1 COSM5414152 c.703G>A p.A235T Substitution - Missense 17:2057393-2057393 + TCGA-CK-5916-01 COSM3691417 c.313C>T p.R105C Substitution - Missense 17:2056946-2056946 + CHC892T COSM4794783 c.1453C>T p.P485S Substitution - Missense 17:2058086-2058086 + CHC1148T COSM4954579 c.1677C>G p.L559L Substitution - coding silent 17:2058367-2058367 + ESCC_143 COSM5644102 c.1377G>T p.G459G Substitution - coding silent 17:2058067-2058067 + SW48 COSM2798217 c.142G>A p.A48T Substitution - Missense 17:2056832-2056832 + 587284 COSM1209659 c.1754G>A p.R585H Substitution - Missense 17:2058444-2058444 + STC297 COSM5055304 c.186G>T p.K62N Substitution - Missense 17:2056819-2056819 + T2932 COSM4690279 c.1705G>A p.E569K Substitution - Missense 17:2058395-2058395 + 63 COSM5742572 c.662C>T p.S221L Substitution - Missense 17:2057295-2057295 + HCC4 COSM1609937 c.1471G>A p.A491T Substitution - Missense 17:2058161-2058161 + 0007_CRUK_PC_0007_T2_DNA COSM3849559 c.1232C>T p.P411L Substitution - Missense 17:2057865-2057865 + SC_9109 COSM5550570 c.78G>A p.A26A Substitution - coding silent 17:2056711-2056711 + 8031544 COSM3387742 c.1448A>T p.E483V Substitution - Missense 17:2058138-2058138 + LS180 COSM4645940 c.1373C>A p.A458D Substitution - Missense 17:2058063-2058063 + 61 COSM5740788 c.427G>A p.A143T Substitution - Missense 17:2057060-2057060 + ESCC_143 COSM5644101 c.1434G>T p.G478G Substitution - coding silent 17:2058067-2058067 + CSCC-49-T COSM4527519 c.1413G>A p.G471G Substitution - coding silent 17:2058103-2058103 + HX13T COSM1609937 c.1471G>A p.A491T Substitution - Missense 17:2058161-2058161 + CHC322T COSM3766034 c.1047C>T p.R349R Substitution - coding silent 17:2057680-2057680 + CHC1154T COSM4952246 c.660G>A p.A220A Substitution - coding silent 17:2057293-2057293 + TCGA-BR-8680-01 COSM4064652 c.274G>A p.E92K Substitution - Missense 17:2056964-2056964 + CHC892T COSM4794784 c.1396C>T p.P466S Substitution - Missense 17:2058086-2058086 + 46M COSM5587987 c.2061C>T p.D687D Substitution - coding silent 17:2058751-2058751 + I2L-P24Ta-Tumor-Biopsy COSM5364214 c.955C>G p.L319V Substitution - Missense 17:2057645-2057645 + CHC1148T COSM4954579 c.1677C>G p.L559L Substitution - coding silent 17:2058367-2058367 + PTC-6C COSM4129686 c.1051C>G p.P351A Substitution - Missense 17:2057741-2057741 + DLD1 COSM4623502 c.1403G>A p.G468D Substitution - Missense 17:2058036-2058036 + CSCC-42-T COSM4524102 c.1252G>A p.G418S Substitution - Missense 17:2057885-2057885 + TCGA-AU-6004-01 COSM3691421 c.1437C>T p.A479A Substitution - coding silent 17:2058070-2058070 + DLD1 COSM4623503 c.1346G>A p.G449D Substitution - Missense 17:2058036-2058036 + sysucc-1397T COSM5473852 c.353T>C p.V118A Substitution - Missense 17:2056986-2056986 + RKO COSM4264600 c.204C>T p.S68S Substitution - coding silent 17:2056837-2056837 + TCGA-AY-6197-01 COSM3691419 c.1212T>C p.G404G Substitution - coding silent 17:2057845-2057845 + LUAD_E00522 COSM352640 c.1299G>A p.L433L Substitution - coding silent 17:2057989-2057989 + LIM1215 COSM705948 c.1122C>T p.G374G Substitution - coding silent 17:2057812-2057812 + 587316 COSM1209657 c.1265C>T p.P422L Substitution - Missense 17:2057955-2057955 + TCGA-BR-6566-01 COSM4064653 c.335C>T p.A112V Substitution - Missense 17:2056968-2056968 + BD124T COSM5493501 c.952delC p.G320fs*13 Deletion - Frameshift 17:2057585-2057585 + CCK81 COSM4611419 c.1386delG p.E463fs*20 Deletion - Frameshift 17:2058019-2058019 + TCGA-F4-6856-01 COSM5173739 c.141C>T p.C47C Substitution - coding silent 17:2056774-2056774 + T3090 COSM3691422 c.1380C>T p.A460A Substitution - coding silent 17:2058070-2058070 + I2L-P24Tb-Tumor-Biopsy COSM5364214 c.955C>G p.L319V Substitution - Missense 17:2057645-2057645 + PTC-6C COSM4129685 c.1108C>G p.P370A Substitution - Missense 17:2057741-2057741 + I2L-P24Ta-Tumor-Biopsy COSM5364213 c.1012C>G p.L338V Substitution - Missense 17:2057645-2057645 + SC_9056 COSM5552128 c.1155C>T p.D385D Substitution - coding silent 17:2057788-2057788 + CHC1148T COSM4954578 c.1734C>G p.L578L Substitution - coding silent 17:2058367-2058367 + CSCC-42-T COSM4524103 c.1195G>A p.G399S Substitution - Missense 17:2057885-2057885 + sysucc-1397T COSM5473853 c.296T>C p.V99A Substitution - Missense 17:2056986-2056986 + T1154 COSM4690275 c.303G>A p.P101P Substitution - coding silent 17:2056993-2056993 + T96 COSM4690277 c.894_895insC p.G301fs*7 Insertion - Frameshift 17:2057584-2057585 + 0007_CRUK_PC_0007_T1_DNA COSM3849559 c.1232C>T p.P411L Substitution - Missense 17:2057865-2057865 + MedB-1 COSM5620962 c.1957G>A p.A653T Substitution - Missense 17:2058590-2058590 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.72956 17p13.3 603825 Hs.695682 17p13.3 603825

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A Synonymous p.G44G c.132C>A 17 1960059 CM C G Missense p.I51M c.153C>G 17 1960080 HNSC C T Synonymous p.G393G c.1179C>T 17 1961106 LUSC G A Missense p.G598S c.1792G>A 17 1961719 STAD G - Frameshift p.E402Rfs*51 c.1204delG 17 1961130 RCCC GGC - InFrameDeletion p.G167delG c.499_501delGGC 17 1960405 CM